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Multidisciplinary Tuberous Sclerosis Program Overview

Contact the Department of Neurology

1-617-355-6388

If your doctor suspects that your child has tuberous sclerosis complex (also called TS or TSC), you probably have a lot of questions about what to expect and how your child’s condition will be cared for. Our Multi-Disciplinary Tuberous Sclerosis Program at Children’s Hospital Boston combines the expertise of physicians who specialize in treating the various complications that children can experience from having tuberous sclerosis.

We also work closely with you, knowing that your family is a central part of your child’s care team. A nurse coordinator, licensed genetic counselor and educational consultant provide essential support to our patients and their families. And through our Family to Family Program, you can talk with other parents whose children have tuberous sclerosis.

Looking to the future

In addition to providing expert care for children with tuberous sclerosis, we are searching for ways to improve treatment. We conduct clinical trials of new drugs, studies of the complications that children experience, and genetic studies to find DNA abnormalities that may contribute to the disease. In addition, Sahin leads a laboratory in which he and his colleagues conduct basic research to better understand the disease and to find new strategies for treatment.

Spotlight

Under a five-year, $6 million grant announced today by the National Institutes of Health, Boston Children’s Hospital will lead 10 medical centers in studying three rare genetic syndromes that often cause autism spectrum disorder (ASD) and intellectual disability (ID). The study’s ultimate goal is to launch clinical trials of new treatments and develop “biomarkers” that can be used to monitor treatment effectiveness—for the three rare syndromes and possibly for broader groups of ASD/ID patients.

Through the grant, from NIH’s Rare Diseases Clinical Research Network (RDCRN), the 10 centers have formed the Developmental Synaptopathies Consortium (U54 NS092090). In addition to the NIH and Boston Children’s, the Consortium includes Cincinnati Children’s Hospital Medical Center, Cleveland Clinic, Icahn School of Medicine at Mount Sinai, Rush University Medical Center, Stanford University, University of Alabama at Birmingham, University of California at Los Angeles and The University of Texas Health Science Center at Houston. (See below for a list of leading investigators.) Enrollment is projected to begin in the spring of 2015.

While both ASD and ID have a variety of known genetic causes, some of them have been shown to impair similar cellular pathways in the brain. The three conditions to be studied by the Consortium—tuberous sclerosis complex (caused by mutations in the TSC1 and TSC2 genes), Phelan-McDermid syndrome (caused by SHANK3 mutations) and PTEN Hamartoma Tumor Syndrome(caused by PTEN mutations)—seem to affect certain shared pathways influencing the development of brain connections, or synapses.

“To date, genetic studies indicate that there are about 500 to 1,000 genes that make people susceptible to ASD and ID,” says Mustafa Sahin, MD, PhD, a pediatric neurologist at Boston Children’s Hospital and the Consortium Director. “While it’s very unlikely that a single therapy could treat disorders with so many distinct causes, we may be able to find certain groups of patients who share defects in similar biochemical pathways and may respond to treatment with the same agents.”

For example, the finding that tuberous sclerosis complex results from disruption of the mTOR pathway have led Sahin and colleagues to test whether mTOR inhibitors can improve patients’ neurocognition. The Consortium investigators now plan to begin testing mTOR inhibitors in PTEN patients, since mTOR has also been implicated in their disease.

“Through comparative analysis of pathology caused by multiple genes, we may find that treatments developed for one disorder might be applicable to others,” says Sahin, who also founded and directs the Multidisciplinary Tuberous Sclerosis Program at Boston Children’s. “A deeper understanding of this shared biology may also be a gateway to understanding the broader mechanisms of ASD and ID.”

The RDCRN is an initiative of NIH’s Office of Rare Disease Research (ORDR) and National Center for Advancing Translational Sciences. The Developmental Synaptopathies Consortium is funded through collaboration between NCATS, NIMH, NINDS and NICHD. Its lead investigators are:

We’re pleased to announce that Boston Children’s Hospital neurologist Mustafa Sahin, MD, PhD, and Darcy Krueger, MD, PhD, of Cincinnati Children’s Hospital Medical Center, have received part of a $100 million grant from the National Institutes of Health as part of the Autism Centers of Excellence. The grant supports their research on tuberous sclerosis complex (TSC). This rare genetic disease causes children to develop benign tumors in their brain and other vital organs and increases their risk of developing autism. Currently, there is no cure for TSC, although there is treatment for the symptoms. Through this project, a consortium of TSC clinics at five pediatric hospitals will recruit infants diagnosed with TSC to track brain development and gain insights into how autism develops.

For more information

For more information about our Multi-Disciplinary Tuberous Sclerosis Program, including our research and family conferences, please visit our website.

To make an appointment, please call us at 617-355-8994617-355-8994617-355-8994617-355-8994617-355-8994617-355-8994.